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ArticlesPeer ReviewedFull Text
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Author / Creator:Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay ; Al-Sanaa, Nouriya ; Al-Abdulwahed, Hind Y. ; Kaymakçalan, Hande ; Yılmaz, Cahide ; Zaki, Maha S. ; Rosti, Rasim O. ; Copeland, Brett ; Baek, Seung Tae ; Musaev, Damir ; Scott, Eric C. ; Ben-Omran, Tawfeg ; Kariminejad, Ariana ; Kayserili, Hulya ; Mojahedi, Faezeh ; Kara, Majdi ; Cai, Na ; Silhavy, Jennifer L. ; Elsharif, Seham ; Fenercioglu, Elif ; Barshop, Bruce A. ; Kara, Bulent ; Wang, Rengang ; Stanley, Valentina ; James, Kiely N. ; Nachnani, Rahul ; Kalur, Aneesha ; Megahed, Hisham ; Incecik, Faruk ; Danda, Sumita ; Alanay, Yasemin ; Faqeih, Eissa ; Melikishvili, Gia ; Mansour, Lobna ; Miller, Ian ; Sukhudyan, Biayna ; Chelly, Jamel ; Dobyns, William B. ; Bilguvar, Kaya ; Jamra, Rami Abou ; Gunel, Murat ; Gleeson, Joseph G.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2018-08, Vol.50 (8), p.1093-1101
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ArticlesPeer ReviewedFull Text
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
Author / Creator:Gao, Hong-Zhi ; Kobayashi, Keiko ; Tabata, Ayako ; Tsuge, Hideaki ; Iijima, Mikio ; Yasuda, Tomotsugu ; Kalkanoglu, H. Serap ; Dursun, Ali ; Tokatli, Aysegul ; Coskun, Turgay ; Trefz, Friedrich K. ; Skladal, Daniela ; Mandel, Hanna ; Seidel, Joerg ; Kodama, Soichi ; Shirane, Seiko ; Ichida, Takafumi ; Makino, Shigeru ; Yoshino, Makoto ; Kang, Jong-Hon ; Mizuguchi, Masashi ; Barshop, Bruce A. ; Fuchinoue, Shohei ; Seneca, Sara ; Zeesman, Susan ; Knerr, Ina ; Rodés, Margarita ; Wasant, Pornswan ; Yoshida, Ichiro ; De Meirleir, Linda ; Abdul Jalil, Md ; Begum, Laila ; Horiuchi, Masahisa ; Katunuma, Nobuhiko ; Nakagawa, Shiro ; Saheki, Takeyori
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-07, Vol.22 (1), p.24-34
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ArticlesPeer ReviewedFull Text
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders
Author / Creator:Farmer, Cristan A ; Kaat, Aaron J ; Thurm, Audrey ; Anselm, Irina ; Akshoomoff, Natacha ; Bennett, Amanda ; Berry, Leandra ; Bruchey, Aleksandra ; Barshop, Bruce A ; Berry-Kravis, Elizabeth ; Bianconi, Simona ; Cecil, Kim M ; Davis, Robert J ; Ficicioglu, Can ; Porter, Forbes D ; Wainer, Allison ; Goin-Kochel, Robin P ; Leonczyk, Caroline ; Guthrie, Whitney ; Koeberl, Dwight ; Love-Nichols, Jamie ; Mamak, Eva ; Mercimek-Andrews, Saadet ; Thomas, Rebecca P ; Spiridigliozzi, Gail A ; Sullivan, Nancy ; Sutton, Vernon R ; Udhnani, Manisha D ; Waisbren, Susan E ; Miller, Judith S
Publisher:United States: American Association on Intellectual and Developmental Disabilities
Journal title:American journal on intellectual and developmental disabilities, 2020-11, Vol.125 (6), p.475-480
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ArticlesPeer ReviewedFull Text
Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes
Author / Creator:Gertsman, Ilya ; Johnson, Wynonna S ; Nishikawa, Connor ; Gangoiti, Jon A ; Holmes, Bonnie ; Barshop, Bruce A
Publisher:England: Oxford University Press
Journal title:Clinical chemistry (Baltimore, Md.), 2016-05, Vol.62 (5), p.766-772
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Newsletter articlesFull Text
Si TV Retains Schroder Investment Banking Firm as Financial Advisor
Author / Creator:Business Editors and Entertainment Writers
Publisher:New York: Business Wire
Journal title:Business Wire, 1999, p.1
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Newsletter articlesFull Text
SATAI Elects Bruce B. Barshop as Chairman of the Board
Publisher:New York: Business Wire
Journal title:Business Wire, 2007
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Select record 27
ArticlesPeer ReviewedFull Text
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD
Author / Creator:Shepard, Peter J. ; Barshop, Bruce A. ; Baumgartner, Matthias R. ; Hansen, John-Bjarne ; Jepsen, Kristen ; Smith, Erin N. ; Frazer, Kelly A.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-08, Vol.17 (8), p.660-667
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Select record 28
ArticlesPeer ReviewedFull Text
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
Author / Creator:Schiffmann, Raphael ; Ries, Markus ; Blankenship, Derek ; Nicholls, Kathy ; Mehta, Atul ; Clarke, Joe T.R. ; Steiner, Robert D. ; Beck, Michael ; Barshop, Bruce A. ; Rhead, William ; West, Michael ; Martin, Rick ; Amato, David ; Nair, Nitin ; Huertas, Pedro
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2013-12, Vol.15 (12), p.983-989
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Select record 29
ArticlesPeer ReviewedFull Text
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
Author / Creator:Sloan, Jennifer L ; Johnston, Jennifer J ; Manoli, Irini ; Chandler, Randy J ; Krause, Caitlin ; Carrillo-Carrasco, Nuria ; Chandrasekaran, Suma D ; Sysol, Justin R ; O'Brien, Kevin ; Hauser, Natalie S ; Sapp, Julie C ; Dorward, Heidi M ; Huizing, Marjan ; Barshop, Bruce A ; Berry, Susan A ; James, Philip M ; Champaigne, Neena L ; de Lonlay, Pascale ; Valayannopoulos, Vassilli ; Geschwind, Michael D ; Gavrilov, Dimitar K ; Nyhan, William L ; Biesecker, Leslie G ; Venditti, Charles P
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-09, Vol.43 (9), p.883-886
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Select record 30
ArticlesPeer ReviewedFull Text
Time before isolating cystinotic leukocytes affects reliability of cystine determination
Author / Creator:Fidler, Meredith C. ; Gangoiti, Jon A. ; Schneider, Jerry A. ; Barshop, Bruce A.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2009-12, Vol.24 (12), p.2465-2466
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Select record 31
ArticlesPeer ReviewedFull Text
Role of L-Carnitine in Apnea of Prematurity: A Randomized, Controlled Trial
Author / Creator:O'Donnell, Jane ; Finer, Neil N ; Rich, Wade ; Barshop, Bruce A ; Barrington, Keith J
Publisher:Elk Grove Village, IL: Am Acad Pediatrics
Journal title:Pediatrics (Evanston), 2002-04, Vol.109 (4), p.622-626
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Select record 32
ArticlesPeer ReviewedFull Text
Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation
Author / Creator:Graf, William D. ; Marin-Garcia, Jose ; Gao, H.G. ; Pizzo, Senia ; Naviaux, Robert K. ; Markusic, David ; Barshop, Bruce A. ; Courchesne, Eric ; Haas, Richard H.
Publisher:Thousand Oaks, CA: SAGE Publications
Journal title:Journal of child neurology, 2000-06, Vol.15 (6), p.357-361
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Select record 33
ArticlesPeer ReviewedFull Text
Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration
Author / Creator:Schaffer, Ashleigh E. ; Breuss, Martin W. ; Caglayan, Ahmet Okay ; Al-Sanaa, Nouriya ; Al-Abdulwahed, Hind Y. ; Kaymakçalan, Hande ; Yılmaz, Cahide ; Zaki, Maha S. ; Rosti, Rasim O. ; Copeland, Brett ; Baek, Seung Tae ; Musaev, Damir ; Scott, Eric C. ; Ben-Omran, Tawfeg ; Kariminejad, Ariana ; Kayserili, Hulya ; Mojahedi, Faezeh ; Kara, Majdi ; Cai, Na ; Silhavy, Jennifer L. ; Elsharif, Seham ; Fenercioglu, Elif ; Barshop, Bruce A. ; Kara, Bulent ; Wang, Rengang ; Stanley, Valentina ; James, Kiely N. ; Nachnani, Rahul ; Kalur, Aneesha ; Megahed, Hisham ; Incecik, Faruk ; Danda, Sumita ; Alanay, Yasemin ; Faqeih, Eissa ; Melikishvili, Gia ; Mansour, Lobna ; Miller, Ian ; Sukhudyan, Biayna ; Chelly, Jamel ; Dobyns, William B. ; Bilguvar, Kaya ; Jamra, Rami Abou ; Gunel, Murat ; Gleeson, Joseph G.
Journal title:Nature genetics, 2018-07, Vol.50 (8), p.1093-1101
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Select record 34
ArticlesPeer ReviewedFull Text
Creatine kinase and uric acid : early warning for metabolic imbalance resulting from disorders of fatty acid oxidation
Author / Creator:MARSDEN, Deborah ; BARSHOP, Bruce A ; NYHAN, William L
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2001-10, Vol.160 (10), p.599-602
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Select record 35
ArticlesPeer ReviewedFull Text
Mitochondrial tubulopathy : the many faces of mitochondrial disorders
Author / Creator:YUNG SENG LEE ; HUI KIM YAP ; BARSHOP, Bruce A ; YOKE SUN LEE ; RAJALINGAM, Sinniah ; KAH YIN LOKE
Publisher:Heidelberg: Springer
Journal title:Pediatric nephrology (Berlin, West), 2001-09, Vol.16 (9), p.710-712
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Select record 36
Reference EntriesFull Text
Metabolic Disease
Author / Creator:Barshop, Bruce A
Journal title:Genetics, 2003, Vol.3, p.37-46
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ArticlesPeer ReviewedFull Text
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients: ASS MUTATIONS IN CITRULLINEMIA
Author / Creator:Gao, Hong-Zhi ; Kobayashi, Keiko ; Tabata, Ayako ; Tsuge, Hideaki ; Iijima, Mikio ; Yasuda, Tomotsugu ; Kalkanoglu, H. Serap ; Dursun, Ali ; Tokatli, Aysegul ; Coskun, Turgay ; Trefz, Friedrich K. ; Skladal, Daniela ; Mandel, Hanna ; Seidel, Joerg ; Kodama, Soichi ; Shirane, Seiko ; Ichida, Takafumi ; Makino, Shigeru ; Yoshino, Makoto ; Kang, Jong-Hon ; Mizuguchi, Masashi ; Barshop, Bruce A. ; Fuchinoue, Shohei ; Seneca, Sara ; Zeesman, Susan ; Knerr, Ina ; Rodés, Margarita ; Wasant, Pornswan ; Yoshida, Ichiro ; De Meirleir, Linda ; Abdul Jalil, Md ; Begum, Laila ; Horiuchi, Masahisa ; Katunuma, Nobuhiko ; Nakagawa, Shiro ; Saheki, Takeyori
Journal title:Human mutation, 2003-07, Vol.22 (1), p.24-34
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Select record 38
ReportsFull Text
Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes
Author / Creator:Concepcion, Jennifer ; Chen, Katherine ; Saito, Rintaro ; Gangoiti, Jon ; Mendez, Eric ; Nikita, Maria Eleni ; Barshop, Bruce A ; Natarajan, Loki ; Sharma, Kumar ; Kim, Jane J
Publisher:Public Library of Science
Journal title:PLoS ONE, 2020, Vol.15 (6), p.e0234970
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Select record 39
ReportsFull Text
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Author / Creator:Schwahn, Bernd C ; Scheffner, Thomas ; Stepman, Hedwig ; Verloo, Peter ; Das, Anibh M ; Fletcher, Janice ; Blom, Henk J ; Benoist, Jean-Francois ; Barshop, Bruce A ; Barea, Jaime J ; Feigenbaum, Annette
Journal title:JIMD reports, 2020, Vol.52 (1), p.3-10
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ReportsFull Text
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Author / Creator:Byrne, Barry J ; Geberhiwot, Tarekegn ; Barshop, Bruce A ; Barohn, Richard ; Hughes, Derralynn ; Bratkovic, Drago ; Desnuelle, Claude ; Laforet, Pascal ; Mengel, Eugen ; Roberts, Mark ; Haroldsen, Peter ; Reilley, Kristin ; Jayaram, Kala ; Yang, Ke ; Walsh, Liron
Publisher:BioMed Central Ltd
Journal title:Orphanet Journal of Rare Diseases, 2017, Vol.12 (1)
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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients

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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

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Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes

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Si TV Retains Schroder Investment Banking Firm as Financial Advisor

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SATAI Elects Bruce B. Barshop as Chairman of the Board

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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

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Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa

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Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

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Time before isolating cystinotic leukocytes affects reliability of cystine determination

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Role of L-Carnitine in Apnea of Prematurity: A Randomized, Controlled Trial

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Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation

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Bi-allelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 over-activity and disordered cortical neuronal migration

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Creatine kinase and uric acid : early warning for metabolic imbalance resulting from disorders of fatty acid oxidation

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Mitochondrial tubulopathy : the many faces of mitochondrial disorders

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Metabolic Disease

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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients: ASS MUTATIONS IN CITRULLINEMIA

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Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

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